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Turner syndrome

17 September 2021

Key points:

  • All people should have 46 human chromosomes that contain genes and DNA, in this particular case, there is no X chromosome in cells.

  • Of the genetic anomalies, Turner’s is the most common since it is estimated that 1000 babies a year are born with this genetic alteration.

  • Not all women and girls in the world have access to timely and adequate diagnosis and treatment due to a lack of education on the subject.

 Turner Syndrome affects one in every 2,500 girls born worldwide. It is a genetic alteration in which the person is born without an X chromosome or is incomplete, causing a series of symptoms that, if not detected in time, can affect the quality of life of those who suffer from it.

Why does it happen?

This genetic abnormality develops randomly; it may be due to a problem with the sperm or egg, or it may occur early in fetal development.

This alteration is not inherited and it is unlikely that the parents of a girl with Turner Syndrome will have another baby with the same problem.

The symptoms appear at different stages of childhood or adolescence, they can be subtle or very noticeable due to major consequences such as kidney failure, heart problems, etc.

Turner Syndrome Characteristics

Before being born:

They can be seen by ultrasound or prenatal DNA analysis

  • Defective kidneys
  • Heart abnormalities
  • Large fluid collections that are not normal

In infancy or during childhood:

  • Wide neck with folds
  • Ears lower than normal
  • Separated nipples
  • High and narrow palate
  • Small or receding lower jaw
  • Heart problems
  • Low hairline in the back
  • Delay in growth
  • Kidney problems
  • Vision deficit

During adolescence or adulthood:

  • Learning problems such as hyperactivity with attention deficit
  • Difficulty socializing
  • Memory loss
  • Incomplete menstrual cycles
  • Short height
  • Infertility

How is it treated?

 It must be detected within the first 5 years for any treatment to be effective.

If the doctor suspects that your daughter has the syndrome due to her symptoms, she will most likely order some laboratory tests to evaluate her chromosomes.

Normally it is treated with hormonal treatments, however, it will be necessary to see different specialists throughout life to avoid major complications.

Life with Turner Syndrome

Although life expectancy is shorter due to possible major complications, with early diagnosis and correct treatment, patients can enjoy a full life within normal standards.

Living with this syndrome can affect women and family members mentally and emotionally, causing self-esteem and depression. Therefore, it is of the utmost importance that there is always support from the immediate environment to achieve a healthy and natural social coexistence.

At ABC Medical Center’s Women’s Center, we can provide you with specialized care. Contact us!


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